Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03196:Ccdc88a'

412819

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc88a

Ensembl Gene

ENSMUSG00000032740

Gene Name

coiled coil domain containing 88A

Synonyms

GIV, Girdin, D130005J21Rik, HkRP1, C330012F17Rik, C130096N06Rik, A430106J12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03196

Quality Score

Status

Chromosome

Chromosomal Location

29323658-29460808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29432340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 377 (S377P)

Ref Sequence

ENSEMBL: ENSMUSP00000115117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040182] [ENSMUST00000140194] [ENSMUST00000155854]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040182
AA Change: S1186P

PolyPhen 2 Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: S1186P

Domain	Start	End	E-Value	Type
Pfam:HOOK	14	590	8.1e-36	PFAM
low complexity region	614	625	N/A	INTRINSIC
Blast:BRLZ	665	719	6e-22	BLAST
low complexity region	826	839	N/A	INTRINSIC
low complexity region	883	895	N/A	INTRINSIC
low complexity region	955	985	N/A	INTRINSIC
low complexity region	1093	1104	N/A	INTRINSIC
coiled coil region	1268	1385	N/A	INTRINSIC
low complexity region	1437	1444	N/A	INTRINSIC
low complexity region	1566	1576	N/A	INTRINSIC
internal_repeat_1	1609	1702	2.38e-6	PROSPERO
internal_repeat_1	1708	1808	2.38e-6	PROSPERO
low complexity region	1811	1824	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000123561
AA Change: S166P

SMART Domains

Protein: ENSMUSP00000119173
Gene: ENSMUSG00000032740
AA Change: S166P

Domain	Start	End	E-Value	Type
coiled coil region	1	212	N/A	INTRINSIC
coiled coil region	248	365	N/A	INTRINSIC
low complexity region	418	425	N/A	INTRINSIC
low complexity region	547	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140194

SMART Domains

Protein: ENSMUSP00000114942
Gene: ENSMUSG00000032740

Domain	Start	End	E-Value	Type
coiled coil region	3	85	N/A	INTRINSIC
low complexity region	137	144	N/A	INTRINSIC
low complexity region	294	304	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155854
AA Change: S377P

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115117
Gene: ENSMUSG00000032740
AA Change: S377P

Domain	Start	End	E-Value	Type
low complexity region	18	31	N/A	INTRINSIC
low complexity region	75	87	N/A	INTRINSIC
low complexity region	146	176	N/A	INTRINSIC
Blast:BRLZ	228	283	7e-6	BLAST
low complexity region	284	295	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal weight loss, reduced angiogenesis, and premature death by P25. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,138,045 (GRCm39)	V57A	probably damaging	Het
Adck1	T	C	12: 88,397,885 (GRCm39)	V173A	probably damaging	Het
Adgrv1	C	A	13: 81,594,597 (GRCm39)	R4139L	probably benign	Het
Aqp4	T	G	18: 15,526,566 (GRCm39)	D305A	probably benign	Het
Cadm1	T	C	9: 47,710,675 (GRCm39)	S193P	possibly damaging	Het
Clic5	C	A	17: 44,552,960 (GRCm39)	H71Q	possibly damaging	Het
Col20a1	G	A	2: 180,649,671 (GRCm39)		probably null	Het
Col5a1	A	G	2: 27,865,610 (GRCm39)	D759G	unknown	Het
Cplane1	A	T	15: 8,230,826 (GRCm39)	K1034N	probably damaging	Het
Cpt1b	A	G	15: 89,308,598 (GRCm39)	V110A	probably benign	Het
Cts8	C	T	13: 61,401,272 (GRCm39)	G85S	probably benign	Het
Cul5	T	A	9: 53,537,180 (GRCm39)	M551L	probably damaging	Het
Eno1b	T	A	18: 48,180,558 (GRCm39)	D245E	probably damaging	Het
Fgf1	A	T	18: 38,975,028 (GRCm39)	Y140*	probably null	Het
Flt1	A	G	5: 147,551,937 (GRCm39)		probably null	Het
Fndc7	A	G	3: 108,790,760 (GRCm39)	Y89H	probably damaging	Het
Gm3127	A	T	14: 15,432,259 (GRCm39)	M254L	probably benign	Het
Gm5849	T	C	3: 90,685,089 (GRCm39)	E32G	probably damaging	Het
Gys1	T	C	7: 45,104,241 (GRCm39)		probably benign	Het
H2ap	A	G	X: 9,713,349 (GRCm39)	Q27R	possibly damaging	Het
Hdgfl2	T	C	17: 56,400,607 (GRCm39)	V125A	probably benign	Het
Igkv6-32	C	T	6: 70,051,042 (GRCm39)	V105I	probably benign	Het
Lmo3	T	C	6: 138,342,993 (GRCm39)	T140A	probably benign	Het
Marf1	A	G	16: 13,958,123 (GRCm39)	V793A	possibly damaging	Het
Mep1b	A	C	18: 21,228,121 (GRCm39)	I575L	probably benign	Het
Mtmr4	T	A	11: 87,491,609 (GRCm39)	I155N	possibly damaging	Het
Muc2	T	C	7: 141,301,367 (GRCm39)	F361L	probably damaging	Het
Ncoa7	T	A	10: 30,523,510 (GRCm39)		probably benign	Het
Nme6	C	T	9: 109,670,561 (GRCm39)	R71W	probably damaging	Het
Or56b1b	T	C	7: 108,164,061 (GRCm39)	S314G	probably benign	Het
Or9g4b	G	A	2: 85,616,365 (GRCm39)	G170D	possibly damaging	Het
Or9m2	A	T	2: 87,820,826 (GRCm39)	I124F	possibly damaging	Het
Osbpl9	C	T	4: 108,930,061 (GRCm39)	V357I	probably damaging	Het
Ppp4r3a	A	G	12: 101,015,913 (GRCm39)		probably benign	Het
Rnf216	T	C	5: 143,066,766 (GRCm39)	R474G	probably damaging	Het
Rpp25l	A	G	4: 41,712,541 (GRCm39)	V78A	possibly damaging	Het
Sh3bp2	C	A	5: 34,714,687 (GRCm39)	P245Q	probably damaging	Het
Slc33a1	A	G	3: 63,871,151 (GRCm39)	F154S	possibly damaging	Het
Wasf2	T	A	4: 132,921,732 (GRCm39)	S284T	unknown	Het
Wdtc1	T	C	4: 133,022,648 (GRCm39)	E566G	probably damaging	Het
Zcchc14	C	T	8: 122,335,877 (GRCm39)		probably benign	Het

Other mutations in Ccdc88a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Ccdc88a	APN	11	29,449,341 (GRCm39)	missense	probably benign	0.24
IGL00577:Ccdc88a	APN	11	29,374,772 (GRCm39)	missense	probably damaging	1.00
IGL00766:Ccdc88a	APN	11	29,451,046 (GRCm39)	missense	probably damaging	0.99
IGL01384:Ccdc88a	APN	11	29,453,915 (GRCm39)	missense	probably damaging	0.99
IGL01541:Ccdc88a	APN	11	29,350,283 (GRCm39)	missense	probably benign
IGL01647:Ccdc88a	APN	11	29,454,321 (GRCm39)	unclassified	probably benign
IGL02648:Ccdc88a	APN	11	29,451,051 (GRCm39)	missense	probably benign	0.28
IGL02885:Ccdc88a	APN	11	29,398,050 (GRCm39)	missense	probably damaging	1.00
IGL03117:Ccdc88a	APN	11	29,324,559 (GRCm39)	missense	probably damaging	1.00
trailor	UTSW	11	29,444,099 (GRCm39)	splice site	probably null
R0011:Ccdc88a	UTSW	11	29,324,364 (GRCm39)	missense	probably damaging	1.00
R0011:Ccdc88a	UTSW	11	29,324,364 (GRCm39)	missense	probably damaging	1.00
R0083:Ccdc88a	UTSW	11	29,453,463 (GRCm39)	missense	probably damaging	0.99
R0108:Ccdc88a	UTSW	11	29,453,463 (GRCm39)	missense	probably damaging	0.99
R0326:Ccdc88a	UTSW	11	29,411,021 (GRCm39)	missense	probably benign	0.01
R0565:Ccdc88a	UTSW	11	29,411,042 (GRCm39)	unclassified	probably benign
R0631:Ccdc88a	UTSW	11	29,443,752 (GRCm39)	missense	probably damaging	0.98
R0632:Ccdc88a	UTSW	11	29,432,749 (GRCm39)	unclassified	probably benign
R0762:Ccdc88a	UTSW	11	29,413,112 (GRCm39)	unclassified	probably benign
R0838:Ccdc88a	UTSW	11	29,350,285 (GRCm39)	missense	probably damaging	1.00
R0946:Ccdc88a	UTSW	11	29,406,509 (GRCm39)	missense	probably benign
R1192:Ccdc88a	UTSW	11	29,454,049 (GRCm39)	missense	possibly damaging	0.45
R1500:Ccdc88a	UTSW	11	29,432,713 (GRCm39)	missense	probably benign	0.00
R1701:Ccdc88a	UTSW	11	29,427,427 (GRCm39)	missense	possibly damaging	0.59
R1826:Ccdc88a	UTSW	11	29,439,637 (GRCm39)	missense	possibly damaging	0.58
R1902:Ccdc88a	UTSW	11	29,411,788 (GRCm39)	missense	probably benign	0.07
R1903:Ccdc88a	UTSW	11	29,411,788 (GRCm39)	missense	probably benign	0.07
R2021:Ccdc88a	UTSW	11	29,453,480 (GRCm39)	missense	probably damaging	1.00
R2023:Ccdc88a	UTSW	11	29,413,546 (GRCm39)	nonsense	probably null
R2284:Ccdc88a	UTSW	11	29,444,099 (GRCm39)	splice site	probably null
R3236:Ccdc88a	UTSW	11	29,397,995 (GRCm39)	missense	possibly damaging	0.51
R3409:Ccdc88a	UTSW	11	29,436,006 (GRCm39)	missense	probably damaging	1.00
R3410:Ccdc88a	UTSW	11	29,436,006 (GRCm39)	missense	probably damaging	1.00
R3411:Ccdc88a	UTSW	11	29,436,006 (GRCm39)	missense	probably damaging	1.00
R3430:Ccdc88a	UTSW	11	29,398,033 (GRCm39)	missense	probably damaging	0.98
R3620:Ccdc88a	UTSW	11	29,380,227 (GRCm39)	missense	probably benign	0.16
R4204:Ccdc88a	UTSW	11	29,413,399 (GRCm39)	missense	probably damaging	1.00
R4515:Ccdc88a	UTSW	11	29,432,651 (GRCm39)	missense	probably benign	0.01
R4518:Ccdc88a	UTSW	11	29,432,651 (GRCm39)	missense	probably benign	0.01
R4519:Ccdc88a	UTSW	11	29,432,651 (GRCm39)	missense	probably benign	0.01
R4693:Ccdc88a	UTSW	11	29,432,241 (GRCm39)	missense	probably damaging	1.00
R4705:Ccdc88a	UTSW	11	29,372,586 (GRCm39)	missense	probably benign
R4707:Ccdc88a	UTSW	11	29,397,956 (GRCm39)	missense	probably benign
R4732:Ccdc88a	UTSW	11	29,435,906 (GRCm39)	missense	probably benign	0.02
R4733:Ccdc88a	UTSW	11	29,435,906 (GRCm39)	missense	probably benign	0.02
R4734:Ccdc88a	UTSW	11	29,432,720 (GRCm39)	missense	probably benign
R4749:Ccdc88a	UTSW	11	29,432,720 (GRCm39)	missense	probably benign
R4817:Ccdc88a	UTSW	11	29,410,907 (GRCm39)	missense	probably benign	0.15
R4828:Ccdc88a	UTSW	11	29,413,210 (GRCm39)	missense	probably damaging	1.00
R4979:Ccdc88a	UTSW	11	29,432,133 (GRCm39)	nonsense	probably null
R5288:Ccdc88a	UTSW	11	29,448,416 (GRCm39)	missense	possibly damaging	0.77
R5373:Ccdc88a	UTSW	11	29,413,409 (GRCm39)	missense	possibly damaging	0.92
R5374:Ccdc88a	UTSW	11	29,413,409 (GRCm39)	missense	possibly damaging	0.92
R5401:Ccdc88a	UTSW	11	29,413,279 (GRCm39)	missense	probably benign	0.00
R5586:Ccdc88a	UTSW	11	29,453,484 (GRCm39)	missense	probably benign	0.00
R6660:Ccdc88a	UTSW	11	29,432,663 (GRCm39)	missense	probably benign	0.01
R7116:Ccdc88a	UTSW	11	29,454,051 (GRCm39)	missense	probably benign	0.01
R7353:Ccdc88a	UTSW	11	29,413,368 (GRCm39)	missense	probably benign	0.00
R7538:Ccdc88a	UTSW	11	29,413,370 (GRCm39)	missense	probably benign	0.00
R7663:Ccdc88a	UTSW	11	29,448,614 (GRCm39)	critical splice donor site	probably null
R7769:Ccdc88a	UTSW	11	29,432,381 (GRCm39)	missense	probably damaging	1.00
R7798:Ccdc88a	UTSW	11	29,427,348 (GRCm39)	missense	probably benign	0.15
R7810:Ccdc88a	UTSW	11	29,435,964 (GRCm39)	missense	probably damaging	1.00
R7826:Ccdc88a	UTSW	11	29,453,563 (GRCm39)	missense	probably benign	0.02
R7956:Ccdc88a	UTSW	11	29,413,892 (GRCm39)	missense	probably damaging	1.00
R8260:Ccdc88a	UTSW	11	29,443,934 (GRCm39)	missense	probably benign	0.01
R8402:Ccdc88a	UTSW	11	29,413,879 (GRCm39)	missense	probably damaging	1.00
R8409:Ccdc88a	UTSW	11	29,453,544 (GRCm39)	missense	probably benign
R8555:Ccdc88a	UTSW	11	29,380,169 (GRCm39)	missense	probably benign
R8676:Ccdc88a	UTSW	11	29,410,860 (GRCm39)	missense	probably benign	0.05
R8846:Ccdc88a	UTSW	11	29,414,185 (GRCm39)	missense	probably damaging	1.00
R8963:Ccdc88a	UTSW	11	29,448,416 (GRCm39)	missense	possibly damaging	0.77
R8972:Ccdc88a	UTSW	11	29,435,888 (GRCm39)	missense	probably benign	0.07
R9353:Ccdc88a	UTSW	11	29,427,433 (GRCm39)	missense	probably damaging	1.00
R9362:Ccdc88a	UTSW	11	29,453,922 (GRCm39)	missense	probably null	0.55
R9385:Ccdc88a	UTSW	11	29,405,422 (GRCm39)	missense	probably benign	0.24
R9509:Ccdc88a	UTSW	11	29,414,143 (GRCm39)	missense	probably benign	0.27
R9610:Ccdc88a	UTSW	11	29,427,316 (GRCm39)	missense	possibly damaging	0.76
R9611:Ccdc88a	UTSW	11	29,427,316 (GRCm39)	missense	possibly damaging	0.76
R9664:Ccdc88a	UTSW	11	29,405,484 (GRCm39)	missense	probably benign	0.08
R9720:Ccdc88a	UTSW	11	29,413,813 (GRCm39)	missense	probably benign

Posted On

2016-08-02